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Article

The Neurobeachin-like 2 Protein Regulates Mast Cell Homeostasis.

Journal of immunology (Baltimore, Md. : 1950) - 15 Oct 2017

Drube Sebastian, Grimlowski Randy, Deppermann Carsten, Fröbel Julia, Kraft Florian, Andreas Nico, Stegner David, Dudeck Jan, Weber Franziska, Rödiger Mandy, Göpfert Christiane, Drube Julia, Reich Daniela, Nieswandt Bernhard, Dudeck Anne, Kamradt Thomas

Abstract excerpt

The neurobeachin-like 2 protein (Nbeal2) belongs to the family of beige and Chediak-Higashi (BEACH) domain proteins. Loss-of-function mutations in the human NBEAL2 gene or Nbeal2 deficiency in mice cause gray platelet syndrome, a bleeding disorder characterized by macrothrombocytopenia, splenomegaly, and paucity of α-granules in megakaryocytes and platelets. We found that in mast cells, Nbeal2 regulates the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Interferon Regulatory Factors

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Source

Identifiers

PMID: 28887433
DOI: 10.4049/jimmunol.1700556

Genes

GATA2
MITF
NBEAL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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